A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28564



Internal ID15497287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49622005..49691121hg38UCSC Ensembl
Outerchr19:49619122..49691630hg38UCSC Ensembl
Innerchr19:50125262..50194378hg19UCSC Ensembl
Outerchr19:50122379..50194887hg19UCSC Ensembl
Innerchr19:54817074..54886190hg18UCSC Ensembl
Outerchr19:54814191..54886699hg18UCSC Ensembl
Innerchr19:54817074..54886190hg17UCSC Ensembl
Outerchr19:54814191..54886699hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3872509
hg1972509
hg1872509
hg1772509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9739
Supporting Variants
SamplesNA19221
Known GenesADM5, BCL2L12, CPT1C, IRF3, MIR5088, PRMT1, PRR12, RRAS, SCAF1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv28564
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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